Canonical Allele Identifier: CA299090

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 182439
• ClinVar RCV Id: RCV000160439 ; RCV000212467 ; RCV000538234
• dbSNP Id: rs548850521
• gnomAD v2: 22-29090031-G-T
• gnomAD v3: 22-28694043-G-T
• gnomAD v4: 22-28694043-G-T
• MyVariant Identifiers: chr22:g.29090031G>T (hg19) ; chr22:g.28694043G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694043G>T , CM000684.2:g.28694043G>T	GRCh38
NC_000022.10:g.29090031G>T , CM000684.1:g.29090031G>T	GRCh37
NC_000022.9:g.27420031G>T	NCBI36
NG_008150.1:g.52792C>A
NG_008150.2:g.52824C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*185C>A	ENSP00000518557.1:n.*185C>A
ENST00000402731.6:c.1249C>A	ENSP00000384835.2:p.Pro417Thr
ENST00000404276.6:c.1450C>A MANE Select	ENSP00000385747.1:p.Pro484Thr
ENST00000425190.7:c.787C>A	ENSP00000390244.2:p.Pro263Thr
ENST00000464581.6:c.790C>A	ENSP00000483777.2:p.Pro264Thr
ENST00000648295.1:n.1002C>A
ENST00000649563.1:c.787C>A	ENSP00000496928.1:p.Pro263Thr
ENST00000650281.1:c.1450C>A	ENSP00000497000.1:p.Pro484Thr
ENST00000328354.10:c.1450C>A	ENSP00000329178.6:p.Pro484Thr
ENST00000348295.7:c.1363C>A	ENSP00000329012.5:p.Pro455Thr
ENST00000382580.6:c.1579C>A	ENSP00000372023.2:p.Pro527Thr
ENST00000402731.5:c.1363C>A	ENSP00000384835.1:p.Pro455Thr
ENST00000403642.5:c.1177C>A	ENSP00000384919.1:p.Pro393Thr
ENST00000404276.5:c.1450C>A	ENSP00000385747.1:p.Pro484Thr
ENST00000405598.5:c.1450C>A	ENSP00000386087.1:p.Pro484Thr
ENST00000416671.5:c.*940C>A	ENSP00000402225.1:n.*940C>A
ENST00000417588.5:c.1359C>A	ENSP00000412901.1:n.1359C>A
ENST00000433728.5:c.1388C>A	ENSP00000404400.1:n.1388C>A
ENST00000434810.5:c.648C>A
ENST00000448511.5:c.1340C>A	ENSP00000404567.1:n.1340C>A
ENST00000456369.5:c.264-4828C>A
NM_001005735.1:c.1579C>A	NP_001005735.1:p.Pro527Thr
NM_001257387.1:c.787C>A	NP_001244316.1:p.Pro263Thr
NM_007194.3:c.1450C>A	NP_009125.1:p.Pro484Thr
NM_145862.2:c.1363C>A	NP_665861.1:p.Pro455Thr
XM_006724114.2:c.970C>A	XP_006724177.1:p.Pro324Thr
XM_006724116.2:c.907C>A	XP_006724179.2:p.Pro303Thr
XM_011529839.1:c.1609C>A	XP_011528141.1:p.Pro537Thr
XM_011529840.1:c.1522C>A	XP_011528142.1:p.Pro508Thr
XM_011529841.1:c.1378C>A	XP_011528143.1:p.Pro460Thr
XM_011529842.1:c.1279C>A	XP_011528144.1:p.Pro427Thr
XM_011529843.1:c.1249C>A	XP_011528145.1:p.Pro417Thr
XM_011529845.1:c.787C>A	XP_011528147.1:p.Pro263Thr
XR_937805.1:n.1609C>A
NM_001349956.1:c.1249C>A	NP_001336885.1:p.Pro417Thr
NM_007194.4:c.1450C>A MANE Select	NP_009125.1:p.Pro484Thr
XM_006724114.3:c.1003C>A	XP_006724177.2:p.Pro335Thr
XM_011529839.2:c.1609C>A	XP_011528141.1:p.Pro537Thr
XM_011529840.3:c.1522C>A	XP_011528142.1:p.Pro508Thr
XM_011529842.2:c.1279C>A	XP_011528144.1:p.Pro427Thr
XM_011529845.2:c.787C>A	XP_011528147.1:p.Pro263Thr
XM_017028560.1:c.1573C>A	XP_016884049.1:p.Pro525Thr
XM_017028561.2:c.787C>A	XP_016884050.1:p.Pro263Thr
XM_024452148.1:c.1480C>A	XP_024307916.1:p.Pro494Thr
XM_024452149.1:c.1393C>A	XP_024307917.1:p.Pro465Thr
XR_937805.2:n.1620C>A
NM_001005735.2:c.1579C>A	NP_001005735.1:p.Pro527Thr
NM_001257387.2:c.787C>A	NP_001244316.1:p.Pro263Thr
NM_001349956.2:c.1249C>A	NP_001336885.1:p.Pro417Thr